P42224
PR
Gene name |
STAT1 |
Protein name |
Signal transducer and activator of transcription 1-alpha/beta |
Names |
Transcription factor ISGF-3 components p91/p84 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:6772 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
321 variants for P42224
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001142684 CA62691419 rs986212030 |
6 | E>D | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1694998227 RCV001240318 |
23 | D>V | Immunodeficiency 31B [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000725679 RCV000280992 rs886043118 |
30 | I>missing | Immunodeficiency 31B [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM1404132 rs1473494120 RCV001330379 CA349928074 |
56 | R>H | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency Variant assessed as Somatic; 0.0 impact. large_intestine [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
CA349928018 RCV000821803 rs1574672739 |
65 | D>N | Immunodeficiency 31B [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA349927973 RCV001027622 rs1574672718 |
70 | R>P | Inherited Immunodeficiency Diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001045359 rs1694920831 |
82 | N>K | Immunodeficiency 31B [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001051390 rs1694803399 |
120 | Q>E | Immunodeficiency 31B [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000706821 CA2030251 rs768483703 |
127 | S>L | Immunodeficiency 31B [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1694239561 RCV001206843 |
130 | I>T | Immunodeficiency 31B [ClinVar] | Yes |
ClinVar dbSNP |
|
CA2030216 RCV000803708 rs371548986 RCV001337083 |
160 | I>L | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency Immunodeficiency 31B [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA128936 RCV000022992 rs387906764 VAR_065934 |
165 | D>G | Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome IMD31C; gain of function mutation associated with increased STAT1 phosphorylation due to impaired nuclear dephosphorylation [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000022995 VAR_065935 CA128942 rs387906767 |
165 | D>H | Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome IMD31C [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
VAR_065936 RCV000022994 rs387906766 CA128940 |
170 | Y>N | Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome IMD31C [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs387906763 CA128934 VAR_065937 |
174 | C>R | IMD31C [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
CA170566 rs587777628 VAR_075494 RCV000133513 |
179 | N>K | Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome IMD31C; gain of function; increases transactivation activity in response to IFNG [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000986962 rs774611299 CA2030214 |
179 | N>S | Immunodeficiency 31B [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
RCV001038914 rs1693998248 |
199 | L>F | Immunodeficiency 31B [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1693998068 RCV001311571 RCV001044633 |
199 | L>P | Immunodeficiency 31B [ClinVar] | Yes |
ClinVar dbSNP |
|
CA128922 RCV000022985 rs587776870 VAR_065815 |
201 | K>N | Immunodeficiency 31B IMD31B; not deleterious in terms of most STAT1 functions; causes abnormal splicing out of exon 8 from most mRNAs thereby decreasing protein levels by approximately 70% [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1559019204 VAR_065938 CA349924161 RCV000022996 |
202 | M>I | Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome IMD31C [ClinVar, UniProt] | Yes |
ClinGen ClinVar Ensembl dbSNP UniProt |
|
CA128932 rs387906762 VAR_065939 RCV000022990 RCV001383601 |
202 | M>V | Immunodeficiency 31B Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome IMD31C [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1693996687 RCV001240323 |
208 | N>S | Immunodeficiency 31B [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1693996119 RCV001065075 RCV002511029 |
210 | R>K | Immunodeficiency 31B [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002521352 CA2030162 RCV000820516 RCV000364320 rs146273341 |
241 | R>Q | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency Immunodeficiency 31B Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001061936 CA2030160 rs779371351 |
248 | I>T | Immunodeficiency 31B [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001263284 rs148775168 RCV000652162 CA2030135 |
265 | I>V | Immunodeficiency 31B [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000986961 CA2030134 RCV000585895 rs41473544 RCV000762307 RCV000539213 |
266 | V>I | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency Immunodeficiency 31B [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000825629 rs387906759 CA128926 RCV000022987 RCV001337084 VAR_065940 RCV001701570 RCV000684865 COSM1014160 |
267 | A>V | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency Chronic mucocutaneous candidiasis Variant assessed as Somatic; impact. endometrium Immunodeficiency 31B Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome IMD31C [ClinVar, NCI-TCGA, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
CA128944 VAR_065941 RCV000022997 rs387906768 |
271 | Q>P | Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome IMD31C [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000148020 CA173962 rs387906758 RCV000702712 |
274 | R>G | Immunodeficiency 31B Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_065942 RCV002286565 COSM1227803 RCV001056331 CA128928 RCV000022988 rs387906760 RCV001090649 RCV003156062 |
274 | R>Q | large_intestine Immunodeficiency 31B Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome STAT1-Related Disorder IMD31C; gain of function; increases STAT1 phosphorylation due to impaired nuclear dephosphorylation; increases transactivation activity in response to IFNG [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
CA128924 rs387906758 COSM1404129 RCV000022986 RCV001090650 RCV000688972 VAR_065943 |
274 | R>W | large_intestine Variant assessed as Somatic; impact. Immunodeficiency 31B Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome IMD31C; gain of function; increases phosphorylation in response to IFNG, IFNA and IL27 due to a loss of dephosphorylation [Cosmic, NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
VAR_075495 rs863223398 CA278917 RCV000190349 |
278 | K>E | Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome IMD31C; gain of function; increases phosphorylation in response to IFNG and IFNA due to a loss of dephosphorylation [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1574657762 RCV001027625 CA349921965 |
280 | L>W | Inherited Immunodeficiency Diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001239955 rs1693752801 |
284 | E>G | Immunodeficiency 31B [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1574657750 CA349921904 RCV001040136 RCV001027627 |
284 | E>K | Immunodeficiency 31B Inherited Immunodeficiency Diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA170569 VAR_075496 RCV000133514 rs587777629 |
285 | Q>R | Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome IMD31C; gain of function; increases transactivation activity in response to IFNG [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1693752377 RCV001232400 |
286 | K>E | Immunodeficiency 31B [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_065944 CA128930 rs387906761 RCV000022989 |
286 | K>I | Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome IMD31C [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1693752377 RCV001052005 |
286 | K>Q | Immunodeficiency 31B [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1574657735 CA349921817 RCV001027628 |
287 | Y>D | Inherited Immunodeficiency Diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_065945 RCV001852004 RCV000022993 rs387906765 CA128938 |
288 | T>A | Immunodeficiency 31B Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome IMD31C [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1693751220 RCV002264164 RCV001052585 |
288 | T>I | Immunodeficiency 31B [ClinVar] | Yes |
ClinVar dbSNP |
|
CA349921761 rs1553496850 RCV000652159 |
289 | Y>C | Immunodeficiency 31B [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA349921679 RCV000986960 RCV000489515 RCV000795005 rs1085307649 |
292 | D>E | Immunodeficiency 31B [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1693749076 RCV001317048 |
293 | P>missing | Immunodeficiency 31B [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_075497 | 298 | K>N | IMD31C; gain of function; increases basal STAT1 phosphorylation levels which are 10-20 fold higher than controls after IFNG stimulation [UniProt] | Yes | UniProt |
|
RCV000802002 CA349921457 rs1574657656 |
312 | L>F | Immunodeficiency 31B [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1693315914 RCV001215393 |
319 | V>M | Immunodeficiency 31B [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_065816 rs137852680 RCV000009614 CA120080 |
320 | E>Q | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency IMD31A; affects the DNA-binding activity of the protein [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1574653439 RCV000797110 CA349920801 RCV001270805 |
324 | C>R | Immunodeficiency 31B Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1693314120 RCV001318727 |
326 | P>S | Immunodeficiency 31B [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000509144 rs1553495586 CA349920780 |
327 | T>A | STAT1-Related Disorder [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1693312947 RCV001234130 |
330 | Q>R | Immunodeficiency 31B [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000623872 rs1553495576 CA349920719 |
336 | K>M | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001726462 rs768767763 RCV001235603 |
339 | V>missing | Immunodeficiency 31B [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1693169265 RCV001063416 |
346 | R>S | Immunodeficiency 31B [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16617404 rs1064794955 RCV001042657 RCV000480463 |
351 | L>F | Immunodeficiency 31B [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1559013693 CA349920027 RCV000691069 |
351 | L>W | Immunodeficiency 31B [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA2030074 RCV001207178 rs759722579 RCV000341352 |
364 | F>L | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency Variant assessed as Somatic; 0.0 impact. Immunodeficiency 31B [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs768434440 CA62672780 RCV001243926 RCV003166525 |
373 | T>S | Immunodeficiency 31B Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs796065052 VAR_075498 RCV000190350 CA204368 |
384 | G>D | Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome IMD31C; gain of function; increases phosphorylation in response to IFNG and IFNA due to a loss of dephosphorylation [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000735320 CA170572 rs587777630 RCV000698604 RCV001027623 RCV000735313 RCV003156074 RCV001090648 VAR_075499 RCV000133515 |
385 | T>M | Variant assessed as Somatic; impact. Immunodeficiency 31B Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome Inherited Immunodeficiency Diseases Cognitive impairment IMD31C; gain of function; increases phosphorylation in response to IFNG, IFNA and IL27 due to a loss of dephosphorylation [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
CA349919101 rs1559011859 RCV000701663 |
388 | K>Q | Immunodeficiency 31B [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1692876152 RCV001066865 |
389 | V>G | Immunodeficiency 31B [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000991273 rs1574648928 CA349919081 |
389 | V>L | Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002537101 RCV000798837 CA349919072 rs1574648919 |
390 | M>V | Immunodeficiency 31B Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1692872913 RCV001317042 |
401 | A>E | Immunodeficiency 31B [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1347113886 RCV000805201 CA349918415 RCV001270751 |
419 | T>R | Immunodeficiency 31B Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002272448 COSM1014155 RCV001312308 rs143182587 CA2029966 |
426 | V>I | Variant assessed as Somatic; 0.0 impact. endometrium Immunodeficiency 31B [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1692621311 RCV001197834 |
427 | T>N | Immunodeficiency 31B [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000703098 CA349917873 rs1181214715 |
433 | L>V | Immunodeficiency 31B [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1692619276 RCV001057504 |
437 | T>I | Immunodeficiency 31B [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001319861 RCV000384734 CA2029962 rs140351189 RCV000500616 |
447 | D>E | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency Immunodeficiency 31B [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA2029946 rs527393923 RCV001059436 |
450 | T>M | Variant assessed as Somatic; 0.0 impact. Immunodeficiency 31B [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs371982540 RCV003142006 CA2029943 RCV001062682 |
455 | V>I | Variant assessed as Somatic; 0.0 impact. Immunodeficiency 31B [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs137852679 CA120078 VAR_065817 RCV000009613 |
463 | Q>H | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency IMD31A; affects the DNA-binding activity of the protein [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
RCV002557034 CA2029900 RCV001142584 rs190269533 |
515 | N>S | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency Immunodeficiency 31B [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001223636 COSM1014152 CA2029882 rs148573907 |
531 | A>T | endometrium Immunodeficiency 31B [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs753414973 RCV001351147 CA2029877 |
540 | T>M | Variant assessed as Somatic; 0.0 impact. Immunodeficiency 31B [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1574642464 CA349914678 RCV000808477 |
543 | C>W | Immunodeficiency 31B [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1574641583 RCV000803650 CA349914242 |
559 | E>Q | Immunodeficiency 31B [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002223244 rs774306421 CA2029816 RCV000795596 |
582 | I>V | Immunodeficiency 31B [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000704299 rs144788879 CA2029813 |
586 | R>Q | Variant assessed as Somatic; 0.0 impact. Immunodeficiency 31B [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA dbSNP gnomAD |
|
rs587776713 RCV000009611 |
587 | E>missing | Immunodeficiency 31B [ClinVar] | Yes |
ClinVar dbSNP |
|
rs745491762 RCV000482030 CA2029812 RCV000678288 |
589 | A>S | Immunodeficiency 31B [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs137852678 CA120076 RCV000009612 VAR_018265 |
600 | L>P | Immunodeficiency 31B IMD31B; found in an infant who died of a viral-like illness associated with complete STAT1 deficiency [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs369060692 RCV001217496 CA2029804 |
619 | R>Q | Variant assessed as Somatic; 0.0 impact. Immunodeficiency 31B [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1691957289 RCV001045531 |
629 | H>L | Immunodeficiency 31B [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_068713 CA170728 rs587777705 RCV000144041 |
637 | K>E | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency IMD31A; affects both phosphorylation and DNA-binding activity; results in impaired STAT1-mediated cellular response to IFN-gamma and interleukin-27 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000009615 rs587776714 |
643 | T>missing | Immunodeficiency 31B [ClinVar] | Yes |
ClinVar dbSNP |
|
rs776429557 CA2029772 RCV001244201 |
650 | N>S | Immunodeficiency 31B [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1574638429 RCV001140713 |
656 | A>V | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA170726 rs587777704 RCV000144040 VAR_068714 |
673 | K>R | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency IMD31A; impairs tyrosine phosphorylation; results in impaired STAT1-mediated cellular response to IFN-gamma and interleukin-27 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000778914 CA2029744 RCV002477781 rs138723664 |
696 | P>H | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency Immunodeficiency 31B [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
| VAR_075500 | 701 | Y>C | IMD31B; disrupts transactivation activity in response to IFNG [UniProt] | Yes | UniProt |
|
VAR_018266 CA120073 rs137852677 RCV000009610 |
706 | L>S | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency IMD31A; loss of GAF and ISGF3 activation; impairs the nuclear accumulation of GAF but not of ISGF3 in heterozygous cells stimulated by IFNs; affects phosphorylation of the protein [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1574636674 RCV001027624 CA349911737 |
720 | T>I | Inherited Immunodeficiency Diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001337082 rs1691783002 |
725 | P>L | Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001040923 rs1691780324 |
734 | V>missing | Immunodeficiency 31B [ClinVar] | Yes |
ClinVar dbSNP |
|
CA2030333 rs750529832 |
2 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA349928687 rs1258563739 |
3 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1233778383 CA349928649 |
4 | W>C | No |
ClinGen gnomAD |
|
|
rs761876441 CA2030331 |
6 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 11 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs11549696 CA62691389 |
27 | P>T | No |
ClinGen Ensembl |
|
| TCGA novel | 28 | M>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs34255470 CA62691353 VAR_034521 |
30 | I>T | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs781389511 CA2030313 |
46 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA349928139 rs781389511 |
46 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 47 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA349928124 rs1410517497 |
48 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs112964697 CA62690888 |
50 | V>A | No |
ClinGen Ensembl |
|
|
rs865962653 CA62690885 |
51 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA62690878 rs868260695 |
54 | T>I | No |
ClinGen Ensembl |
|
|
CA62690856 rs541089913 |
56 | R>C | No |
ClinGen Ensembl |
|
|
rs751586208 CA2030311 |
58 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 76 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA349927905 rs1230312731 |
80 | Q>* | No |
ClinGen gnomAD |
|
|
CA349927877 rs1293185041 |
83 | I>M | No |
ClinGen gnomAD |
|
|
rs1227143332 CA349927842 |
88 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA2030276 rs771067490 |
93 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA62689939 rs756147217 |
98 | P>A | No |
ClinGen TOPMed |
|
|
rs756147217 CA349927378 |
98 | P>S | No |
ClinGen TOPMed |
|
| TCGA novel | 105 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 114 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs111550607 CA62689920 |
114 | K>R | No |
ClinGen Ensembl |
|
|
rs1268196215 CA349927229 |
118 | N>S | No |
ClinGen gnomAD |
|
|
CA349927232 rs1434958612 |
118 | N>Y | No |
ClinGen gnomAD |
|
|
rs1482374494 CA349927226 COSM3379231 |
119 | A>T | pancreas [Cosmic] | No |
ClinGen cosmic curated gnomAD |
| TCGA novel | 120 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748138919 CA2030272 |
123 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA2030271 rs778751233 |
123 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA349927187 rs1476328098 |
124 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA2030252 rs778997004 |
126 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA2030253 rs748265365 |
126 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA349925505 rs1219815154 |
132 | S>G | No |
ClinGen Ensembl |
|
|
rs1397948697 CA349925481 |
133 | T>A | No |
ClinGen gnomAD |
|
|
rs1269987554 CA349925464 |
134 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA2030250 rs749245387 |
137 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs535073025 CA2030249 |
137 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
RCV000627470 rs755837357 |
140 | K>missing | No |
ClinVar dbSNP |
|
|
rs780853224 CA349925280 |
143 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 144 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1472778655 CA349925274 |
144 | S>N | No |
ClinGen gnomAD |
|
|
CA2030243 rs751041198 |
147 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA2030242 rs763588438 |
149 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA62685296 rs866650146 |
151 | D>N | No |
ClinGen Ensembl |
|
|
CA349925221 rs1243375266 |
152 | K>E | No |
ClinGen gnomAD |
|
|
CA2030241 rs149388191 |
154 | M>T | No |
ClinGen ESP ExAC TOPMed |
|
|
rs373784601 CA2030217 |
155 | C>R | No |
ClinGen ESP ExAC gnomAD |
|
|
RCV000522452 rs1553497886 CA349924383 |
173 | K>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA349924334 rs1375484778 |
180 | R>K | No |
ClinGen TOPMed |
|
|
rs890092776 CA62683356 |
182 | H>Q | No |
ClinGen gnomAD |
|
|
rs1430662949 CA349924301 |
183 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1051397529 CA62683355 |
185 | N>S | No |
ClinGen Ensembl |
|
| TCGA novel | 186 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA62683337 rs554033787 |
189 | K>E | No |
ClinGen Ensembl |
|
| TCGA novel | 203 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770668865 CA2030186 |
205 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA349924109 rs1284002507 |
209 | K>R | No |
ClinGen gnomAD |
|
|
CA349923985 rs1455231935 |
212 | E>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 223 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771750276 CA2030165 |
224 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 225 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA349923636 rs1386912031 |
227 | T>N | No |
ClinGen gnomAD |
|
|
rs973703621 CA62683058 |
228 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs761607680 CA2030164 |
229 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA349923500 rs1486275875 |
235 | E>K | No |
ClinGen gnomAD |
|
|
CA62683036 rs1017740241 |
247 | C>Y | No |
ClinGen TOPMed |
|
|
CA2030159 rs779371351 |
248 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 249 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000627609 rs1341038926 |
251 | P>missing | No |
ClinVar dbSNP |
|
|
RCV000479452 rs778254943 CA2030156 |
251 | P>L | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA349922526 rs1559018895 |
253 | N>I | No |
ClinGen Ensembl |
|
| TCGA novel | 278 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 279 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 289 | Y>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750476767 CA2030130 |
290 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs932535296 CA62678070 |
297 | N>S | No |
ClinGen Ensembl |
|
| TCGA novel | 297 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 299 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1247630154 CA349921596 |
299 | Q>K | No |
ClinGen TOPMed |
|
|
CA2030128 rs143131630 |
300 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1357437713 CA349921557 |
302 | W>R | No |
ClinGen TOPMed |
|
|
rs751403509 CA2030127 |
304 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs763976174 CA2030126 |
304 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA349921499 rs1348354191 |
306 | F>L | No |
ClinGen gnomAD |
|
|
rs1265924959 CA349921473 |
310 | Q>E | No |
ClinGen TOPMed |
|
|
rs1459476471 CA349921435 |
315 | S>N | No |
ClinGen TOPMed |
|
|
rs776192196 CA2030104 |
326 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs533671897 CA2030101 |
331 | R>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA16621785 RCV000487566 rs1064797279 |
342 | T>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 346 | R>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1553495184 RCV000523089 CA349919991 |
355 | N>D | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 361 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA349919859 rs1405901081 |
362 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 371 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs55891000 CA62672791 |
372 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs768434440 CA2030042 |
373 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA349919342 rs1355403556 |
373 | T>I | No |
ClinGen TOPMed |
|
|
CA2030039 rs755834379 |
374 | V>G | No |
ClinGen ExAC |
|
|
CA2030040 rs779761023 |
374 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs780612990 CA2030037 |
375 | K>Q | No |
ClinGen ExAC |
|
| TCGA novel | 380 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1387308488 CA349919123 |
386 | H>Y | No |
ClinGen gnomAD |
|
|
rs1553494436 CA349919065 RCV000521523 |
390 | M>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1177785137 CA349918979 |
396 | T>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 415 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA349918436 rs1215562242 |
416 | G>S | No |
ClinGen Ensembl |
|
|
rs1347113886 CA349918414 |
419 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs747331848 CA2029969 |
424 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA349918053 rs1365931959 |
425 | I>V | No |
ClinGen gnomAD |
|
|
CA349917893 rs1241920918 |
432 | S>T | No |
ClinGen gnomAD |
|
|
CA349917875 rs1181214715 |
433 | L>I | No |
ClinGen gnomAD |
|
|
rs1377870017 CA349917858 |
434 | S>G | No |
ClinGen TOPMed |
|
|
rs1477460404 CA349917772 |
438 | Q>* | No |
ClinGen TOPMed |
|
|
CA2029963 rs753695026 |
445 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA349917619 rs1313271807 |
446 | I>V | No |
ClinGen gnomAD |
|
|
CA2029961 rs760409880 |
448 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA349917569 rs1381054494 |
449 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1364125268 CA349917488 |
450 | T>A | No |
ClinGen gnomAD |
|
| TCGA novel | 452 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 452 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs935654762 CA62671014 |
455 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs371982540 CA62671021 |
455 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 459 | S>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 460 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1266546864 CA349917218 |
466 | S>N | No |
ClinGen gnomAD |
|
|
CA2029936 rs762390015 |
467 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771343339 CA2029934 |
477 | L>V | No |
ClinGen ExAC gnomAD |
|
|
COSM461219 rs747510156 CA2029933 |
479 | A>V | cervix [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA62670993 rs866554932 |
481 | P>R | No |
ClinGen Ensembl |
|
|
CA349916870 rs1451353776 |
484 | L>M | No |
ClinGen gnomAD |
|
| TCGA novel | 487 | F>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781297102 CA2029905 |
488 | L>P | No |
ClinGen ExAC |
|
|
rs1385773582 CA349916829 |
489 | T>I | No |
ClinGen gnomAD |
|
| VAR_036001 | 491 | P>A | a breast cancer sample; somatic mutation [UniProt] | No | UniProt |
|
CA62670512 rs770809861 |
494 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| TCGA novel | 501 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA349916741 rs1185249247 |
503 | S>N | No |
ClinGen gnomAD |
|
|
rs916580554 CA62670489 |
504 | W>C | No |
ClinGen TOPMed |
|
|
CA349916687 rs1559009086 |
509 | V>A | No |
ClinGen Ensembl |
|
|
rs1255172781 CA349916580 |
515 | N>K | No |
ClinGen gnomAD |
|
|
CA349916577 rs1239084154 |
516 | V>M | No |
ClinGen gnomAD |
|
|
CA2029895 rs753287741 |
523 | G>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 525 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA349914782 rs552751565 |
530 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs758182245 CA2029881 |
531 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1182880176 CA349914773 |
532 | S>N | No |
ClinGen gnomAD |
|
|
CA62669903 rs373727392 |
533 | P>S | No |
ClinGen ESP TOPMed |
|
|
rs1803838 CA2029879 COSM209252 |
538 | P>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 544 | K>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 550 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766471694 CA2029845 |
553 | P>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 557 | W>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA62669527 rs113988352 |
561 | I>T | No |
ClinGen Ensembl |
|
|
rs75743269 CA62669522 |
566 | K>* | No |
ClinGen Ensembl |
|
| TCGA novel | 568 | H>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs868561754 CA62669516 |
571 | P>L | No |
ClinGen Ensembl |
|
|
rs865828880 CA62669517 |
571 | P>S | No |
ClinGen Ensembl |
|
| TCGA novel | 575 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767475430 CA2029823 |
578 | I>N | No |
ClinGen ExAC |
|
|
rs1172162395 CA349913901 |
579 | M>T | No |
ClinGen TOPMed |
|
|
rs1315345636 CA349913794 |
586 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1315345636 CA349913795 |
586 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs745491762 CA2029811 |
589 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770315023 CA2029809 |
595 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1398307167 CA349913642 COSM1530175 |
596 | P>L | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA349913645 rs1398307167 |
596 | P>Q | No |
ClinGen gnomAD |
|
|
rs1559006976 CA349913648 |
596 | P>S | No |
ClinGen Ensembl |
|
|
CA349913582 rs1209841496 |
602 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 611 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 611 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 611 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1384102608 CA349913436 |
616 | W>* | No |
ClinGen gnomAD |
|
|
rs1574640523 RCV000997633 CA349913408 |
618 | E>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1425474734 CA349913395 |
619 | R>W | No |
ClinGen gnomAD |
|
|
CA349913332 rs1324953258 |
623 | G>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 624 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1217369969 CA349912626 |
625 | E>D | No |
ClinGen gnomAD |
|
|
CA62668487 rs866575541 |
626 | P>S | No |
ClinGen Ensembl |
|
| TCGA novel | 627 | D>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA349912399 rs1387961263 |
639 | L>F | No |
ClinGen gnomAD |
|
|
CA2029776 rs758376836 |
640 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA2029775 rs752542806 |
642 | V>D | No |
ClinGen ExAC gnomAD |
|
|
CA349912362 rs1167191557 |
642 | V>I | No |
ClinGen gnomAD |
|
|
CA2029773 rs759271255 |
648 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA2029774 rs369876674 |
648 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1245176183 CA349912256 COSM270248 |
649 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1574638429 CA349912205 |
656 | A>G | No |
ClinGen Ensembl |
|
|
CA349912148 rs1559005879 |
664 | L>P | No |
ClinGen Ensembl |
|
|
rs766134563 CA2029771 |
665 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs760391069 CA2029770 |
666 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
rs771679419 CA2029768 |
668 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
COSM236235 CA2029767 rs747656964 |
671 | I>T | autonomic_ganglia [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1474567730 CA349912096 |
672 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1374373369 CA349912080 |
674 | D>V | No |
ClinGen TOPMed |
|
|
CA2029765 rs770281025 |
675 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 677 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA349911990 rs1396458544 |
687 | A>P | No |
ClinGen TOPMed |
|
|
rs1344221723 CA349911968 |
688 | P>L | No |
ClinGen TOPMed |
|
|
rs777025255 CA2029745 |
690 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs138723664 CA349911912 |
696 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs978375887 CA62667983 |
698 | G>A | No |
ClinGen TOPMed |
|
|
CA349911902 rs1360111182 |
698 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 703 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA62667979 rs546323205 |
712 | V>F | No |
ClinGen 1000Genomes |
|
|
CA349911784 rs1574636688 |
713 | H>L | No |
ClinGen Ensembl |
|
| TCGA novel | 716 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA349911724 rs1252790560 |
722 | N>S | No |
ClinGen TOPMed |
|
|
rs1173266737 CA349911687 |
728 | P>A | No |
ClinGen gnomAD |
|
|
rs748388742 CA349911668 |
730 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1487182042 CA349911650 |
733 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1559004835 CA349911623 |
736 | R>Q | No |
ClinGen Ensembl |
|
|
rs1247965121 CA349911557 |
740 | S>F | No |
ClinGen gnomAD |
|
|
rs749333159 CA2029719 |
743 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2029717 rs780156389 |
744 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs756051270 CA2029716 |
746 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA62667550 rs1001844648 |
746 | M>V | No |
ClinGen Ensembl |
No associated diseases with P42224
4 regional properties for P42224
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Signal recognition particle, SRP54 subunit, GTPase domain | 93 - 286 | IPR000897 |
| domain | AAA+ ATPase domain | 92 - 276 | IPR003593 |
| domain | Signal recognition particle, SRP54 subunit, M-domain | 315 - 415 | IPR004125 |
| domain | Signal recognition particle SRP54, helical bundle | 2 - 83 | IPR013822 |
Functions
12 GO annotations of cellular component
| Name | Definition |
|---|---|
| axon | The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter. |
| chromatin | The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| dendrite | A neuron projection that has a short, tapering, morphology. Dendrites receive and integrate signals from other neurons or from sensory stimuli, and conduct nerve impulses towards the axon or the cell body. In most neurons, the impulse is conveyed from dendrites to axon via the cell body, but in some types of unipolar neuron, the impulse does not travel via the cell body. |
| ISGF3 complex | A transcription factor complex that consists of a Stat1-Stat2 heterodimer and the IRF9 protein. |
| nucleolus | A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, the nucleus. |
| protein-containing complex | A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together. |
| RNA polymerase II transcription regulator complex | A transcription factor complex that acts at a regulatory region of a gene transcribed by RNA polymerase II. |
20 GO annotations of molecular function
| Name | Definition |
|---|---|
| cadherin binding | Binding to cadherin, a type I membrane protein involved in cell adhesion. |
| CCR5 chemokine receptor binding | Binding to a CCR5 chemokine receptor. |
| DNA-binding transcription factor activity | A transcription regulator activity that modulates transcription of gene sets via selective and non-covalent binding to a specific double-stranded genomic DNA sequence (sometimes referred to as a motif) within a cis-regulatory region. Regulatory regions include promoters (proximal and distal) and enhancers. Genes are transcriptional units, and include bacterial operons. |
| DNA-binding transcription factor activity, RNA polymerase II-specific | A DNA-binding transcription factor activity that modulates the transcription of specific gene sets transcribed by RNA polymerase II. |
| double-stranded DNA binding | Binding to double-stranded DNA. |
| enzyme binding | Binding to an enzyme, a protein with catalytic activity. |
| histone acetyltransferase binding | Binding to an histone acetyltransferase. |
| histone binding | Binding to a histone, any of a group of water-soluble proteins found in association with the DNA of eukaryotic or archaeal chromosomes. They are involved in the condensation and coiling of chromosomes during cell division and have also been implicated in gene regulation and DNA replication. They may be chemically modified (methylated, acetlyated and others) to regulate gene transcription. |
| identical protein binding | Binding to an identical protein or proteins. |
| nuclear receptor binding | Binding to a nuclear receptor protein. Nuclear receptor proteins are DNA-binding transcription factors which are regulated by binding to a ligand. |
| promoter-specific chromatin binding | Binding to a section of chromatin that is associated with gene promoter sequences of DNA. |
| protein homodimerization activity | Binding to an identical protein to form a homodimer. |
| protein phosphatase 2A binding | Binding to protein phosphatase 2A. |
| RNA polymerase II cis-regulatory region sequence-specific DNA binding | Binding to a specific upstream regulatory DNA sequence (transcription factor recognition sequence or binding site) located in cis relative to the transcription start site (i.e., on the same strand of DNA) of a gene transcribed by RNA polymerase II. |
| RNA polymerase II core promoter sequence-specific DNA binding | Binding to a DNA sequence that is part of the core promoter of a RNA polymerase II-transcribed gene. |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | Binding to a specific sequence of DNA that is part of a regulatory region that controls the transcription of a gene or cistron by RNA polymerase II. |
| transcription coactivator binding | Binding to a transcription coactivator, a protein involved in positive regulation of transcription via protein-protein interactions with transcription factors and other proteins that positively regulate transcription. Transcription coactivators do not bind DNA directly, but rather mediate protein-protein interactions between activating transcription factors and the basal transcription machinery. |
| transcription corepressor binding | Binding to a transcription corepressor, a protein involved in negative regulation of transcription via protein-protein interactions with transcription factors and other proteins that negatively regulate transcription. Transcription corepressors do not bind DNA directly, but rather mediate protein-protein interactions between repressing transcription factors and the basal transcription machinery. |
| tumor necrosis factor receptor binding | Binding to a tumor necrosis factor receptor. |
| ubiquitin-like protein ligase binding | Binding to a ubiquitin-like protein ligase, such as ubiquitin-ligase. |
42 GO annotations of biological process
| Name | Definition |
|---|---|
| blood circulation | The flow of blood through the body of an animal, enabling the transport of nutrients to the tissues and the removal of waste products. |
| cellular response to insulin stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an insulin stimulus. Insulin is a polypeptide hormone produced by the islets of Langerhans of the pancreas in mammals, and by the homologous organs of other organisms. |
| cellular response to interferon-beta | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an interferon-beta stimulus. Interferon-beta is a type I interferon. |
| cellular response to interferon-gamma | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an interferon-gamma stimulus. Interferon gamma is the only member of the type II interferon found so far. |
| cellular response to organic cyclic compound | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organic cyclic compound stimulus. |
| cytokine-mediated signaling pathway | The series of molecular signals initiated by the binding of a cytokine to a receptor on the surface of a cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| defense response | Reactions, triggered in response to the presence of a foreign body or the occurrence of an injury, which result in restriction of damage to the organism attacked or prevention/recovery from the infection caused by the attack. |
| defense response to virus | Reactions triggered in response to the presence of a virus that act to protect the cell or organism. |
| interferon-gamma-mediated signaling pathway | The series of molecular signals initiated by interferon-gamma binding to its receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. Interferon gamma is the only member of the type II interferon found so far. |
| interleukin-27-mediated signaling pathway | The series of molecular signals initiated by interleukin-27 binding to a receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| macrophage derived foam cell differentiation | The process in which a monocyte acquires the specialized features of a foam cell. A foam cell is a type of cell containing lipids in small vacuoles and typically seen in atherosclerotic lesions, as well as other conditions. |
| metanephric mesenchymal cell differentiation | The process in which relatively unspecialized cells acquire specialized structural and/or functional features that characterize the mesenchymal cells of the metanephros as it progresses from its formation to the mature state. |
| metanephric mesenchymal cell proliferation involved in metanephros development | The multiplication or reproduction of cells, resulting in the expansion of a metanephric mesenchymal cell population. |
| negative regulation by virus of viral protein levels in host cell | Any process where the infecting virus reduces the levels of viral proteins in a cell. |
| negative regulation of angiogenesis | Any process that stops, prevents, or reduces the frequency, rate or extent of angiogenesis. |
| negative regulation of endothelial cell proliferation | Any process that stops, prevents, or reduces the rate or extent of endothelial cell proliferation. |
| negative regulation of I-kappaB kinase/NF-kappaB signaling | Any process that stops, prevents, or reduces the frequency, rate or extent of -kappaB kinase/NF-kappaB signaling. |
| negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis | Any process that decreases the rate, frequency or extent of the transition where a mesenchymal cell establishes apical/basolateral polarity,forms intercellular adhesive junctions, synthesizes basement membrane components and becomes an epithelial cell that will contribute to the shaping of the metanephros. |
| negative regulation of metanephric nephron tubule epithelial cell differentiation | Any process that decreases the frequency, rate or extent of metanephric nephron tubule epithelial cell differentiation. |
| negative regulation of transcription by RNA polymerase II | Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| positive regulation of defense response to virus by host | Any host process that results in the promotion of antiviral immune response mechanisms, thereby limiting viral replication. |
| positive regulation of DNA-templated transcription | Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription. |
| positive regulation of erythrocyte differentiation | Any process that activates or increases the frequency, rate or extent of erythrocyte differentiation. |
| positive regulation of interferon-alpha production | Any process that activates or increases the frequency, rate, or extent of interferon-alpha production. |
| positive regulation of mesenchymal cell proliferation | The process of activating or increasing the rate or extent of mesenchymal cell proliferation. Mesenchymal cells are loosely organized embryonic cells. |
| positive regulation of nitric-oxide synthase biosynthetic process | Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of a nitric oxide synthase enzyme. |
| positive regulation of smooth muscle cell proliferation | Any process that activates or increases the rate or extent of smooth muscle cell proliferation. |
| positive regulation of transcription by RNA polymerase II | Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. |
| receptor signaling pathway via JAK-STAT | Any process in which STAT proteins (Signal Transducers and Activators of Transcription) and JAK (Janus Activated Kinase) proteins convey a signal to trigger a change in the activity or state of a cell. The receptor signaling pathway via JAK-STAT begins with activation of a receptor and proceeeds through STAT protein activation by members of the JAK family of tyrosine kinases. STAT proteins dimerize and subsequently translocate to the nucleus. The pathway ends with regulation of target gene expression by STAT proteins. |
| regulation of apoptotic process | Any process that modulates the occurrence or rate of cell death by apoptotic process. |
| regulation of cell population proliferation | Any process that modulates the frequency, rate or extent of cell proliferation. |
| renal tubule development | The progression of the renal tubule over time from its formation to the mature form. A renal tubule is a tube that filters, re-absorbs and secretes substances to rid an organism of waste and to play a role in fluid homeostasis. |
| response to cAMP | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cAMP (cyclic AMP, adenosine 3',5'-cyclophosphate) stimulus. |
| response to cytokine | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cytokine stimulus. |
| response to hydrogen peroxide | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hydrogen peroxide (H2O2) stimulus. |
| response to interferon-beta | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an interferon-beta stimulus. Interferon-beta is a type I interferon. |
| response to mechanical stimulus | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a mechanical stimulus. |
| response to nutrient | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a nutrient stimulus. |
| response to peptide hormone | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptide hormone stimulus. A peptide hormone is any of a class of peptides that are secreted into the blood stream and have endocrine functions in living animals. |
| response to xenobiotic stimulus | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a xenobiotic, a compound foreign to the organim exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical. |
| tumor necrosis factor-mediated signaling pathway | The series of molecular signals initiated by tumor necrosis factor binding to its receptor on the surface of a cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| type I interferon signaling pathway | The series of molecular signals initiated by type I interferon binding to its receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. Type I interferons include the interferon-alpha, beta, delta, episilon, zeta, kappa, tau, and omega gene families. |
15 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P61635 | STAT3 | Signal transducer and activator of transcription 3 | Bos taurus (Bovine) | PR |
| Q6DV79 | STAT3 | Signal transducer and activator of transcription 3 | Gallus gallus (Chicken) | PR |
| P52630 | STAT2 | Signal transducer and activator of transcription 2 | Homo sapiens (Human) | PR |
| P40763 | STAT3 | Signal transducer and activator of transcription 3 | Homo sapiens (Human) | PR |
| Q14765 | STAT4 | Signal transducer and activator of transcription 4 | Homo sapiens (Human) | PR |
| P42229 | STAT5A | Signal transducer and activator of transcription 5A | Homo sapiens (Human) | PR |
| P51692 | STAT5B | Signal transducer and activator of transcription 5B | Homo sapiens (Human) | PR |
| P42230 | Stat5a | Signal transducer and activator of transcription 5A | Mus musculus (Mouse) | PR |
| P42228 | Stat4 | Signal transducer and activator of transcription 4 | Mus musculus (Mouse) | PR |
| Q9WVL2 | Stat2 | Signal transducer and activator of transcription 2 | Mus musculus (Mouse) | PR |
| P42227 | Stat3 | Signal transducer and activator of transcription 3 | Mus musculus (Mouse) | PR |
| P42225 | Stat1 | Signal transducer and activator of transcription 1 | Mus musculus (Mouse) | PR |
| Q19S50 | STAT3 | Signal transducer and activator of transcription 3 | Sus scrofa (Pig) | PR |
| P52631 | Stat3 | Signal transducer and activator of transcription 3 | Rattus norvegicus (Rat) | PR |
| Q9NAD6 | sta-1 | Signal transducer and activator of transcription 1 | Caenorhabditis elegans | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSQWYELQQL | DSKFLEQVHQ | LYDDSFPMEI | RQYLAQWLEK | QDWEHAANDV | SFATIRFHDL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LSQLDDQYSR | FSLENNFLLQ | HNIRKSKRNL | QDNFQEDPIQ | MSMIIYSCLK | EERKILENAQ |
| 130 | 140 | 150 | 160 | 170 | 180 |
| RFNQAQSGNI | QSTVMLDKQK | ELDSKVRNVK | DKVMCIEHEI | KSLEDLQDEY | DFKCKTLQNR |
| 190 | 200 | 210 | 220 | 230 | 240 |
| EHETNGVAKS | DQKQEQLLLK | KMYLMLDNKR | KEVVHKIIEL | LNVTELTQNA | LINDELVEWK |
| 250 | 260 | 270 | 280 | 290 | 300 |
| RRQQSACIGG | PPNACLDQLQ | NWFTIVAESL | QQVRQQLKKL | EELEQKYTYE | HDPITKNKQV |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LWDRTFSLFQ | QLIQSSFVVE | RQPCMPTHPQ | RPLVLKTGVQ | FTVKLRLLVK | LQELNYNLKV |
| 370 | 380 | 390 | 400 | 410 | 420 |
| KVLFDKDVNE | RNTVKGFRKF | NILGTHTKVM | NMEESTNGSL | AAEFRHLQLK | EQKNAGTRTN |
| 430 | 440 | 450 | 460 | 470 | 480 |
| EGPLIVTEEL | HSLSFETQLC | QPGLVIDLET | TSLPVVVISN | VSQLPSGWAS | ILWYNMLVAE |
| 490 | 500 | 510 | 520 | 530 | 540 |
| PRNLSFFLTP | PCARWAQLSE | VLSWQFSSVT | KRGLNVDQLN | MLGEKLLGPN | ASPDGLIPWT |
| 550 | 560 | 570 | 580 | 590 | 600 |
| RFCKENINDK | NFPFWLWIES | ILELIKKHLL | PLWNDGCIMG | FISKERERAL | LKDQQPGTFL |
| 610 | 620 | 630 | 640 | 650 | 660 |
| LRFSESSREG | AITFTWVERS | QNGGEPDFHA | VEPYTKKELS | AVTFPDIIRN | YKVMAAENIP |
| 670 | 680 | 690 | 700 | 710 | 720 |
| ENPLKYLYPN | IDKDHAFGKY | YSRPKEAPEP | MELDGPKGTG | YIKTELISVS | EVHPSRLQTT |
| 730 | 740 | ||||
| DNLLPMSPEE | FDEVSRIVGS | VEFDSMMNTV |